ClinVar for MedGen (Select 355026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441928	NM_014989.7(RIMS1):c.797A>G (p.Glu266Gly)	RIMS1 (E266G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 1805699	NM_014989.7(RIMS1):c.1679-20589C>T	RIMS1 (S21F)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 7	GUncertain significance
Select item 1449441	NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr)	RIMS1 (I134T +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +2 more	GUncertain significance
Select item 958710	NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu)	RIMS1 (K415E +8 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 930892	NM_014989.7(RIMS1):c.4067C>T (p.Ala1356Val)	RIMS1 (A545V +36 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 7	GUncertain significance
Select item 930877	NM_014989.7(RIMS1):c.1679-16551C>T	RIMS1 (H12Y)	Single nucleotide variant (missense variant +2 more)	Cone-rod dystrophy 7	GUncertain significance
Select item 930509	NM_014989.7(RIMS1):c.3919G>A (p.Gly1307Arg)	RIMS1 (G496R +36 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 7	GUncertain significance
Select item 930473	NM_014989.7(RIMS1):c.2896C>T (p.Arg966Cys)	RIMS1 (R416C +8 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 912254	NM_014989.7(RIMS1):c.39C>G (p.Pro13=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 912253	NM_014989.7(RIMS1):c.29C>G (p.Pro10Arg)	RIMS1 (P10R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912252	NM_014989.7(RIMS1):c.-121C>T	RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911429	NM_014989.7(RIMS1):c.*941T>C	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911428	NM_014989.7(RIMS1):c.*453G>C	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911427	NM_014989.7(RIMS1):c.*397G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911362	NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu)	RIMS1 (P417L +39 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 911361	NM_014989.7(RIMS1):c.3589G>A (p.Ala1197Thr)	RIMS1 (A555T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 911360	NM_014989.7(RIMS1):c.3554+13T>C	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911299	NM_014989.7(RIMS1):c.1758G>A (p.Thr586=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 911298	NM_014989.7(RIMS1):c.1386G>A (p.Pro462=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911297	NM_014989.7(RIMS1):c.1364G>A (p.Gly455Glu)	RIMS1 (G455E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911229	NM_014989.7(RIMS1):c.*202G>C	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911228	NM_014989.7(RIMS1):c.*189A>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 911159	NM_014989.7(RIMS1):c.3308+12T>G	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 911158	NM_014989.7(RIMS1):c.3279A>G (p.Val1093=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 7	GUncertain significance
Select item 911157	NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=)	RIMS1	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 911091	NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala)	RIMS1 (T433A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 911090	NM_014989.7(RIMS1):c.954G>C (p.Arg318Ser)	RIMS1 (R318S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 910273	NM_014989.7(RIMS1):c.*2429G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 910272	NM_014989.7(RIMS1):c.*2357C>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 910271	NM_014989.7(RIMS1):c.*2132A>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909298	NM_014989.7(RIMS1):c.*1702G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909297	NM_014989.7(RIMS1):c.*1690G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909235	NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg)	RIMS1 (K960R +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909234	NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr)	RIMS1 (S1031T +62 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 909233	NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 909161	NM_014989.7(RIMS1):c.2868T>C (p.Pro956=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909160	NM_014989.7(RIMS1):c.2865T>C (p.Ser955=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909159	NM_014989.7(RIMS1):c.2827C>G (p.Gln943Glu)	RIMS1 (Q336E +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909158	NM_014989.7(RIMS1):c.2787T>G (p.Ser929Arg)	RIMS1 (S402R +8 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908455	NM_014989.7(RIMS1):c.*1310A>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 908454	NM_014989.7(RIMS1):c.*1280G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 908453	NM_014989.7(RIMS1):c.*1230A>C	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908452	NM_014989.7(RIMS1):c.*1134C>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908386	NM_014989.7(RIMS1):c.4444G>A (p.Val1482Ile)	RIMS1 (V526I +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908385	NM_014989.7(RIMS1):c.4442T>C (p.Met1481Thr)	RIMS1 (M554T +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908316	NM_014989.7(RIMS1):c.2545-4T>C	RIMS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908315	NM_014989.7(RIMS1):c.2242-12C>T	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 908314	NM_014989.7(RIMS1):c.2241+14G>A	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908313	NM_014989.7(RIMS1):c.1957+10C>A	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 908251	NM_014989.7(RIMS1):c.459+12A>G	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 908250	NM_014989.7(RIMS1):c.459C>T (p.Asn153=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 908249	NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr)	RIMS1 (N126T +2 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 908248	NM_014989.7(RIMS1):c.423G>A (p.Ala141=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GLikely benign
Select item 872603	NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter)	RIMS1 (R1144* +4 more)	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 862711	NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg)	RIMS1 (G276R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +2 more	GConflicting classifications of pathogenicity
Select item 851145	NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu)	RIMS1 (R363L)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 840239	NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg)	RIMS1 (G570R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 838989	NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys)	RIMS1 (R310C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GLikely benign
Select item 828152	NM_014989.7(RIMS1):c.2770+2T>C	RIMS1	Single nucleotide variant (splice donor variant)	Cone-rod dystrophy 7	GLikely pathogenic
Select item 771400	NM_014989.7(RIMS1):c.4923C>T (p.Ile1641=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 746942	NM_014989.7(RIMS1):c.3588C>T (p.His1196=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 740717	NM_014989.7(RIMS1):c.798A>G (p.Glu266=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 738820	NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 7 +1 more	GLikely benign
Select item 638483	NM_014989.7(RIMS1):c.1679-20563C>T	RIMS1 (R30*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GUncertain significance
Select item 631988	NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)	RIMS1 (R1691* +62 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 498460	NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu)	RIMS1 (S1262L +39 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497703	NM_014989.7(RIMS1):c.169G>C (p.Val57Leu)	RIMS1 (V57L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 357896	NM_014989.7(RIMS1):c.*2386T>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357895	NM_014989.7(RIMS1):c.*2291C>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357894	NM_014989.7(RIMS1):c.*2251G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357893	NM_014989.7(RIMS1):c.*2125G>C	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357892	NM_014989.7(RIMS1):c.*2049T>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357891	NM_014989.7(RIMS1):c.*1991T>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357890	NM_014989.7(RIMS1):c.*1964C>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357889	NM_014989.7(RIMS1):c.*1935A>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357887	NM_014989.7(RIMS1):c.*1682C>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357886	NM_014989.7(RIMS1):c.*1494T>C	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357885	NM_014989.7(RIMS1):c.*1458A>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357883	NM_014989.7(RIMS1):c.*1446A>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357880	NM_014989.7(RIMS1):c.*1355C>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357879	NM_014989.7(RIMS1):c.*1076A>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357878	NM_014989.7(RIMS1):c.*1038A>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357877	NM_014989.7(RIMS1):c.*1025G>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357876	NM_014989.7(RIMS1):c.*864G>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357875	NM_014989.7(RIMS1):c.*783G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357874	NM_014989.7(RIMS1):c.*545C>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357873	NM_014989.7(RIMS1):c.*542A>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357870	NM_014989.7(RIMS1):c.*283A>G	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357869	NM_014989.7(RIMS1):c.*280C>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357868	NM_014989.7(RIMS1):c.*138G>T	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357867	NM_014989.7(RIMS1):c.*75G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7 +1 more	GBenign/Likely benign
Select item 357866	NM_014989.7(RIMS1):c.*44G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357865	NM_014989.7(RIMS1):c.5076A>G (p.Ser1692=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 357864	NM_014989.7(RIMS1):c.4860+15G>A	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 357863	NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 357860	NM_014989.7(RIMS1):c.4512A>G (p.Ile1504Met)	RIMS1 (I1504M +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 357858	NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 7 +1 more	GLikely benign
Select item 357857	NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp)	RIMS1 (R1387W +38 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 357855	NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro)	RIMS1 (L1314P +36 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 357854	NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 7 +1 more	GLikely benign

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